Hepatoid adenocarcinoma of the stomach: Thirteen case reports and review of literature

BACKGROUND The aim of the present study was to examine the clinical characteristics of hepatoid adenocarcinoma of the stomach (HAS) and its diagnosis,treatment,and prognosis.CASE SUMMARY A retrospective analysis of 13 HAS cases was performed.The mean age of the 13patients was 66.08 years,and 10 of the 13 patients were male.Prior to treatment,the alpha-fetoprotein levels in the serum were elevated in 7 patients,the tumour was located in the distal or gastric body in 11 patients,and the gastroscopy pathological results showed that 3 patients had poorly differentiated tumours and that 8 patients had moderately/poorly differentiated tumours.Abdominal CT scans showed local stomach wall thickening,and enlarged lymph nodes were visible around the stomach in 8 patients.Of the 13 patients,11 underwent radical surgery.The clinical pathological staging was as follows:Stage Ⅱ in 2 cases;stage Ⅲ in 8 cases;and stage Ⅳ in 1 case.A total of 3 patients were lost to follow-up.Otherwise,as of the last follow-up,3 patients had survived for 56 mo,and the other 7 patients failed to achieve long-term survival (survival period of 1-56 mo).CONCLUSION HAS is a special type of gastric cancer,and the prognosis of HAS has improved compared with past prognoses.Measurement of alpha-fetoprotein,early diagnosis,active surgical treatment,and application of new diagnostic and treatment techniques are conducive to improving the prognosis of HAS.     

Inguinal endometriosis: Ten case reports and review of literature

BACKGROUNDTo describe the characteristics, diagnosis and surgical treatment of inguinal endometriosis (IEM).CASE SUMMARYWe retrospectively analyzed 10 patients diagnosed with IEM at Beijing Chao-Yang Hospital from 2011 to 2019. Relevant features, symptoms, images, surgical treatment, hormonal therapy and follow-up were collected and discussed. A total of 10 cases of IEM diagnosed by surgery and pathology were characterized by a lesion on the right side (9/11); five patients had symptoms related to the menstrual cycle, and only 3 patients were clearly diagnosed before surgery. Ultrasonography was of little assistance in confirming the diagnosis, but magnetic resonance imaging showed specific, high-intensity patterns. Anatomically, most of the IEM lesions were located in the extraperitoneal ligament (10/11); nine patients had inguinal hernias (IH), five had concurrent or prior pelvic endometriosis, and four had infertility. The clinical results from extensive resection were satisfactory.CONCLUSIONIEM is an extremely rare condition that can easily be misdiagnosed prior to surgery. A right IH may contribute to the formation of right-sided IEM, and extensive resection involving the round ligament and hernia sac is essential to prevent recurrence.     

Genetic mutations associated with sensitivity to neoadjuvant chemotherapy in metastatic colon cancer: A case report and review of literature

BACKGROUNDColorectal liver metastases (CLM) occur in 15%-30% of patients with colorectal cancer (CRC). Advancements in next generation sequencing (NGS) can provide more precise prognoses for cancer patients and help guide clinical treatment. However, the genetic variants that predict high sensitivity to neoadjuvant chemotherapy remain unclear, especially in patients with CLM. The aim of this study was to identify the relevant genetic variants in a single CLM patient and to summarize the current evidence on mutations and single nucleotide polymorphisms (SNPs) that objectively predict sensitivity to neoadjuvant chemotherapy.CASE SUMMARYA 76-year-old male patient, who was diagnosed as stage IV colon cancer with liver metastases, was found to have APC/TP53/KRAS mutations. He showed a good therapeutic response to 12 courses of oxaliplatin regimens combined with Bevacizumab. Genetic analysis of the patient identified 5 genes with 7 detected SNPs that may be related to a better response to chemotherapy drugs. In addition, a critical literature review was performed based on a standardized appraisal form after selecting the articles. Ultimately, 21 eligible studies were appraised to assess the association between gene mutations and good prognosis. Mutations in KRAS, TP53, SMAD4, and APC were identified as being associated with a poor response to chemotherapy drugs, whereas mutations of CREBBP and POLD1 were associated with longer overall survival.CONCLUSIONNGS can identify precise predictors of response to neoadjuvant chemotherapy, leading to improved outcomes for CRC patients.     

Malignant adenomyoepithelioma of the breast: Two case reports and review of the literature

BACKGROUNDMalignant adenomyoepithelioma (AME) of the breast is a rare tumor in which malignancy can arise from either epithelial or myoepithelial components, or from both cell types. The incidence and prognosis of malignant AME of the breast are difficult to assess due to its rarity. Therefore, the optimal treatment for this disease is still controversial.CASE SUMMARYWe present two middle-aged women (48 and 56 years old) with malignant AME of the breast. Core needle biopsy was performed before surgery. However, breast adenoma and malignant tumors were observed. The preoperative diagnosis of malignant AME of the breast is still challenging for pathologists and clinicians. Both patients underwent mastectomy and sentinel lymph node biopsy, both of which were negative, followed by adjuvant chemotherapy.CONCLUSIONThe follow-up duration of the two patients was two years and four months, respectively. No signs of relapse or metastasis have been observed thus far.     

Liver injury associated with the use of selective androgen receptor modulators and post-cycle therapy: Two case reports and literature review

BACKGROUNDMuscle growth promoters are being developed for the treatment of disease-induced loss of muscle mass. Ligandrol and ostarine are selective androgen receptor modulators (SARMs) with a non-steroidal structure and a presumably more favorable side effect profile. In recent years, these substances with or without “post-cycle therapy” (PCT) are often misused by amateur athletes aiming to promote muscle growth. At the same time, reports on their toxic effects on organ systems are emerging.CASE SUMMARYWe report two cases of liver injury in young men who used ligandrol and/or ostarine for a few weeks followed by the use of substances for PCT. Acute liver injury occurred in both cases after stopping SARMs while on PCT. The clinical picture was dominated by jaundice and fatigue. The biochemical pattern showed a mixed type of injury with normal alkaline phosphatase and high concentrations of bilirubin and serum bile acids. Histological evidence showed predominantly cholestatic injury with canalicular bile plugs, ductopenia, and mild hepatocellular damage without significant fibrosis. The patients recovered from the condition after 3 mo. The off target effects of SARMs were likely idiosyncratic, but our report highlights the yet unrecognized effects of other toxic substances used for PCT, supra-therapeutic doses, and the complete absence of monitoring for adverse effects.CONCLUSIONAmong muscle-building amateur athletes, SARMs (ligandrol or ostarine) and/or substances in PCT may cause cholestatic liver injury with prolonged recovery.     

Cystic duct dilation through endoscopic retrograde cholangiopancreatography for treatment of gallstones and choledocholithiasis: Six case reports and review of literature

BACKGROUNDCholedocholithiasis removal via endoscopic retrograde cholangiopancreatography (ERCP) then followed by laparoscopic cholecystectomy (LC) has gradually become the principal method in the treatment of gallstones and choledocholithiasis. We use ERCP through the cystic duct to treat gallstones combined with choledocholithiasis, with the aim to preserve the normal function of the gallbladder while simultaneously decreasing risk of biliary tract injury.CASE SUMMARYA total of six cases of patients diagnosed with gallstones and choledocholithiasis were treated with ERCP. The efficacy was evaluated via operation success rate, calculus removal rate, postoperative hospital stay and average hospitalization costs; the safety was evaluated through perioperative complication probability, gallbladder function detection and gallstones recrudesce. The calculus removal rate reached 100%, and patients had mild adverse events, including 1 case of postoperative acute cholecystitis and another of increased blood urinary amylase; both were relieved after corresponding treatment, the remaining cases had no complications. The average hospital stay and hospitalization costs were 6.16 ± 1.47 d and 5194 ± 696 dollars. The 3-11 mo follow-up revealed that gallbladder contracted well, without recurrence of gallstones.CONCLUSIONThis is the first batch of case reports for the treatment of gallstones and choledocholithiasis through ERCP approached by natural cavity. The results and effects of six reported cases proved that the new strategy is safe and feasible and is worthy of further exploration and application.     

Application of ultrasound in aggressive angiomyxoma: Eight case reports and review of literature

Aggressive angiomyxoma (AAM) is a rare tumour that often occurs in soft tissues of the female genital tract. Eight cases of AAM are reported in this article, and the clinical features and ultrasound and magnetic resonance imaging (MRI) results of the eight cases are reviewed and summarized. The main complaints of all the patients were palpable and painless masses in the vulva or scrotum. The lesions were mainly located in the vulva, pelvis, and perineal region, with a large scope of involvement. The sonographic features of AAM were characteristic. On sonography, all of the masses were of irregular shape and showed hypoechogenicity, with a heterogeneous inner echotexture. Intratumoural and peritumoural blood flows were detected by colour Doppler imaging. On real-time ultrasonic imaging, prominent deformation of the lesions was observed by compressing the masses with the probe. Some special imaging features were also revealed, including a laminated or swirled appearance of inner echogenicity, and a finger-like or tongue-like growth pattern. On MRI imaging, the lesions showed intermediate-intensity signals and intermediate to high-intensity signals on TI-weighted and T2-weighted sequences. A rapid and uneven enhancement pattern was demonstrated. After the comparison of sonographic features with MRI and pathological findings, we found the relevance of the ultrasonographic characteristics with MRI and histological features of AAM. Ultrasound can be a valuable imaging method for the preoperative diagnosis, evaluation of scope, and follow-up of AAM.     

Carney complex: Two case reports and review of literature

Carney complex (CNC) is an extremely rare genetic syndrome of pigmented skin lesions, endocrine hyperfunction and myxoma. Given its diverse clinical manifestations, CNC is often misdiagnosed. Recognition of some special clinical manifestations and imaging features may help with the diagnosis. Early diagnosis of CNC would alert ongoing surveillance of tumors and complications; the prognosis of CNC may thus be improved by early treatment. Herein, we report two cases of CNC with bone lesions.     

Treatment of gastric cancer with dermatomyositis as the initial symptom: Two case reports and review of literature

BACKGROUNDDermatomyositis (DM) is a rare autoimmune disease involving the connective tissue. The association between DM and gastric cancer remains unclear. Patients with DM have an increased risk of cancer and higher mortality. It requires immunosuppressive therapy, heightened surveillance, and immunologic response to internal malignancy.CASE SUMMARYTwo cases of gastric cancer with DM as the first symptom in Zhongshan Hospital, Fudan University (Shanghai, China) were reported. Two patients had a typical skin rash. The rash in the first patient involved mainly bilateral upper limbs and neck, while the second patient manifested rash associated mainly with the face, neck, and back. Both manifested muscle weakness in the extremities and elevated serum creatine kinase. Radical resection of the tumor dramatically improved DM-related symptoms in the two patients. The literature review showed that gastric cancer is more commonly associated with DM in middle-aged and older male populations.CONCLUSIONThe findings suggest the need for comprehensive screening for malignant tumors in patients with DM refractory to long-term pharmacotherapy or hormone manipulation.     

Acquired hemophilia A in solid cancer: Two case reports and review of the literature

Acquired hemophilia A (AHA) is a rare, hemorrhagic autoimmune disease, whose pathogenesis involves reduced coagulation factor VIII (FVIII) activity related to the appearance of inhibitors against FVIII. Common etiological factors include autoimmune diseases, malignancy, and pregnancy. We report two cases of AHA in solid cancer. The first case is a 63-year-old man who developed peritoneal and intestinal bleeding after gastrectomy for gastric cancer. He was diagnosed with AHA, and was treated with prednisone, followed by cyclophosphamide. In the second case, a 68-year-old man developed a subcutaneous hemorrhage. He was diagnosed with AHA in hepatocellular carcinoma on CT imaging, and treated with rituximab alone. Hemostasis was achieved for both patients without bypassing agents as the amount of inhibitors was reduced and eradicated. However, both patients died within 1 year due to cancer progression. Successful treatment for AHA in solid cancer can be difficult because treatment of the underlying malignancy is also required.     

Two case reports and literature review for hepatic epithelioid angiomyolipoma: Pitfall of misdiagnosis

BACKGROUND Hepatic epithelioid angiomyolipoma(HEAML) is a rare liver disease and is easily misdiagnosed. Enhanced recognition of HEAML is beneficial to the differential diagnosis of rare liver diseases.CASE SUMMARY We presented two cases of HEAML in Changzheng Hospital, Naval Medical University, and then collected and analyzed all reports about HEAML recorded in PubMed, MEDLINE, China Science Periodical Database, and VIP database from January 2000 to March 2018. A total of 409 cases of HEAML in 97 reports were collected, with a ratio of men to women of 1:4.84 and an age range from 12 years to 80 years(median 44 years). Among the patients with clinical symptoms mentioned, 61.93%(205/331) were asymptomatic, 34.74%(115/331) showed upper or right upper quadrant abdomen discomfort, while a few of them showed abdominal mass, gastrointestinal symptoms, low fever, or weight loss. The misdiagnosis rate of HEAML was as high as 40.34%(165/409) due to its nonspecific imaging findings. Most of the tumors were solitary and round in morphology, with clear boundaries. Ultrasound scan indicated low echo with internal nonuniformity and rich blood supply in most cases. Computer tomography/magnetic resonance imaging enhanced scan showed varied characteristics. The ratio of fast wash-in and fast wash-out, fast wash-in and slow wash-out, and delayed enhancement was roughly 4:5:1. A definite diagnosis of HEAML depended on the pathological findings of the epithelioid cells in lesions and the expression of human melanoma black 45, smooth muscle actin,melanoma antigen, and actin by immunohistochemical staining. HEAML had a relatively low malignant rate of 3.91%. However, surgical resection was the main treatment for HEAML, due to the difficulty diagnosing before operation.CONCLUSION HEAML is a rare and easily misdiagnosed disease, and it should be diagnosed carefully, taking into account clinical course, imaging, pathological,and immunohistochemical findings.     

Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review

BACKGROUNDMutations in the aggrecan (ACAN) gene are identified in patients with: spondyloepiphyseal dysplasia, Kimberley type; short stature with advanced bone age (BA); in the presence or absence of heterozygous ACAN mutation-induced early-onset osteoarthritis and/or osteochondritis dissecans; and spondyloepimetaphyseal dysplasia, ACAN type. Heterozygous mutations contribute to spondyloepiphyseal dysplasia, Kimberley type (MIM#608361), which is a milder skeletal dysplasia. In contrast, homozygous mutations cause a critical skeletal dysplasia, which is called spondyloepimetaphyseal dysplasia, ACAN type (MIM#612813). Lately, investigations on exome and genome sequencing have shown that ACAN mutations can also lead to idiopathic short stature with or without an advanced BA, in the presence or absence of early-onset osteoarthritis and/or osteochondritis dissecans (MIM#165800). We herein reported a heterozygous defect of ACAN in a family with autosomal dominant short stature, BA acceleration, and premature growth cessation.CASE SUMMARYA 2-year-old male patient visited us due to growth retardation. The patient presented symmetrical short stature (height 79 cm, < -2 SD) without facial features and other congenital abnormalities. Whole-exome sequencing revealed a heterozygous pathogenic variant c. 871C>T (p. Gln291*) of ACAN, which was not yet reported in cases of short stature. This mutation was also detected in his father and paternal grandmother. According to the Human Gene Mutation Database, 67 ACAN mutations are registered. Most of these mutations are genetically inheritable, and very few children with short stature are associated with ACAN mutations. To date, heterozygous ACAN mutations have been reported in approximately 40 families worldwide, including a few individuals with a decelerated BA.CONCLUSIONHeterozygous c. 871C>T (p. Gln291*) variation of the ACAN gene was the disease-causing variant in this family. Collectively, our newly discovered mutation expanded the spectrum of ACAN gene mutations.     

Collagen VI-related myopathy with scoliosis alone: A case report and literature review

BACKGROUNDScoliosis is a complex three-dimensional deformity of spine and one of the common complications of collagen VI-related myopathy, caused by mutations in collagen type VI alpha 1 chain (COL6A1), COL6A2, and COL6A3 genes. The typical clinical presentations of collagen VI-related myopathy include weakness, hypotonia, laxity of distal joints, contractures of proximal joints, and skeletal deformities.CASE SUMMARYA 28-year-old female presented with scoliosis for 28 years without weakness, hypotonia, laxity of distal joints, and contracture of proximal joints. Computed tomography and magnetic resonance imaging revealed hemivertebra, butterfly vertebra, and the missing vertebral space. Patients underwent orthopedic surgery and paravertebral muscle biopsy. The Cobb angle dropped from 103.4° to 52.9°. However, the muscle biopsy showed neurogenic muscular atrophy with myogenic lesions, suggesting congenital muscular dystrophy. Gene analysis indicated that mutations in COL6A1 (c.1612-10G>A) and COL6A2 (c.115+10G>T, c.2749G>A). Immunohistochemistry staining for collagen VI displayed shallow and discontinuous. Eventually, the patient was diagnosed as collagen VI-related myopathy.CONCLUSIONThis newly found subtype of collagen VI-related myopathy has no typical manifestations; however, it is characterized by severe scoliosis and congenital vertebral deformity.